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Entry
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- #108500 - EPISODIC ATAXIA, TYPE 2; EA2
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- OMIM
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<p>
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<span class="h4">#108500</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/108500"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS160120"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(EPISODIC ATAXIA, TYPE) OR (CACNA1A)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=264&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1138/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2620" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=108500[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<div style="display: table-row">
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050990" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/108500" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001270/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050990" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:108500" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
|
<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 420932006<br />
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<strong>ORPHA:</strong> 97<br />
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<strong>DO:</strong> 0050990<br />
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">ICD+</a>
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</div>
|
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
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<span class="text-danger"><strong>#</strong></span>
|
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108500
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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EPISODIC ATAXIA, TYPE 2; EA2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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ATAXIA, EPISODIC, WITH NYSTAGMUS<br />
|
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EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED<br />
|
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CEREBELLOPATHY, HEREDITARY PAROXYSMAL<br />
|
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ATAXIA, FAMILIAL PAROXYSMAL<br />
|
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ACETAZOLAMIDE-RESPONSIVE HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA; APCA<br />
|
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CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE; CAPA
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
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</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/19/355?start=-3&limit=10&highlight=355">
|
|
19p13.13
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Episodic ataxia, type 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/108500"> 108500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CACNA1A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601011"> 601011 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/108500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS160120" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/108500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/108500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tinnitus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/162352007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">162352007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/162349004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">162349004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60862001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60862001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H93.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H93.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H93.19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H93.19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/388.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">388.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/388.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">388.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040264&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040264</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000360" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000360</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000360" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000360</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ictal and interictal diplopia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862451&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862451</a>]</span><br /> -
|
|
Suppression of vestibuloocular reflex <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862452</a>]</span><br /> -
|
|
Saccadic smooth pursuit <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836479&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836479</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001152" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001152</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001152" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001152</a>]</span><br /> -
|
|
Gaze-evoked nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1220537002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1220537002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5574666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574666</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000640</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000640</a>]</span><br /> -
|
|
Interictal downbeat nystagmus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862446</a>]</span><br /> -
|
|
Ocular abnormalities often persist between attacks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862453</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ataxia, episodic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/421455009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">421455009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1720189&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1720189</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002131" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002131</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
|
|
Unsteadiness, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862443</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271713000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271713000</a>]</span><br /> -
|
|
Vertigo <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399090003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399090003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399153001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399153001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R42</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.85" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.85</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1069915&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1069915</a>, <a href="https://bioportal.bioontology.org/search?q=C0042571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042571</a>, <a href="https://bioportal.bioontology.org/search?q=C1135208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002321</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002321</a>]</span><br /> -
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Myotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3434004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3434004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700153&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700153</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002486</a>]</span><br /> -
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Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
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Migraine headache <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37796009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37796009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G43.909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43.909</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G43.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/346" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">346</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/346.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">346.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149931</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002076</a>]</span><br /> -
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Weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13791008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13791008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.81</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714552</a>, <a href="https://bioportal.bioontology.org/search?q=C0004093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025406" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025406</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025406" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025406</a>]</span><br /> -
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Paresthesias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91019004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91019004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003401" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003401</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003401" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003401</a>]</span><br /> -
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Interictal vestibular dysfunction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843865&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843865</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001751</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001751</a>]</span><br /> -
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Interictal dystonia may occur later in disease course <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862448&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862448</a>]</span><br /> -
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Interictal ataxia may occur later in disease course <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862449&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862449</a>]</span><br /> -
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Paroxysmal activity seen on EEG<br /> -
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Atrophy of cerebellar vermis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0742028&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0742028</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006855" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006855</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006855" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006855</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Most common episodic ataxia syndrome<br /> -
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Onset usually in childhood or adolescence<br /> -
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Onset may occur in adulthood <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/77374008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">77374008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206132</a>, <a href="https://bioportal.bioontology.org/search?q=C0332162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0332162</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003674" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003674</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003674" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003674</a>]</span><br /> -
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Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
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Progressive ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230233000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230233000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0393525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002073</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002073</a>]</span><br /> -
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Episodes last from several hours to days<br /> -
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Frequency of episodes ranges from several per week to several per year<br /> -
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Symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes<br /> -
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Favorable response of episodic attacks to acetazolamide<br /> -
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Phenotypic overlap with FHM1 (<a href="/entry/141500">141500</a>) and SCA6 (<a href="/entry/183086">183086</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the calcium channel, voltage-dependent, P/Q type, alpha 1A subunit gene (CACNA1A, <a href="/entry/601011#0005">601011.0005</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Episodic ataxia
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- <a href="/phenotypicSeries/PS160120">PS160120</a>
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- 9 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/189?start=-3&limit=10&highlight=189"> 1p36.13-p34.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616055"> Episodic ataxia, type 8 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/616055"> 616055 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616055"> EA8 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616055"> 616055 </a>
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</span>
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</td>
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<tr>
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<span class="mim-font">
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<a href="/geneMap/1/1737?start=-3&limit=10&highlight=1737"> 1q42 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606554"> Episodic ataxia, type 3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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</span>
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<span class="mim-font">
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<a href="/entry/606554"> 606554 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/entry/606554"> EA3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606554"> 606554 </a>
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<span class="mim-font">
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<a href="/geneMap/2/690?start=-3&limit=10&highlight=690"> 2q23.3 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/613855"> ?Episodic ataxia, type 5 </a>
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</span>
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</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/613855"> 613855 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601949"> CACNB4 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601949"> 601949 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/2/736?start=-3&limit=10&highlight=736"> 2q24.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/618924"> Episodic ataxia, type 9 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/618924"> 618924 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/182390"> SCN2A </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/182390"> 182390 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/5/114?start=-3&limit=10&highlight=114"> 5p13.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612656"> Episodic ataxia, type 6 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612656"> 612656 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600111"> SLC1A3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600111"> 600111 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/12/41?start=-3&limit=10&highlight=41"> 12p13.32 </a>
|
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|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/160120"> Episodic ataxia/myokymia syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/160120"> 160120 </a>
|
|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
|
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<a href="/entry/176260"> KCNA1 </a>
|
|
</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/176260"> 176260 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/19/355?start=-3&limit=10&highlight=355"> 19p13.13 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/108500"> Episodic ataxia, type 2 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/108500"> 108500 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<a href="/entry/601011"> CACNA1A </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601011"> 601011 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/19/537?start=-3&limit=10&highlight=537"> 19q13 </a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/611907"> Episodic ataxia, type 7 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611907"> 611907 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/611907"> EA7 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611907"> 611907 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Not Mapped
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606552"> Episodic ataxia, type 4 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606552"> 606552 </a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606552"> EA4 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
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<a href="/entry/606552"> 606552 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that episodic ataxia type 2 (EA2) is caused by heterozygous mutation in the calcium ion channel gene CACNA1A (<a href="/entry/601011">601011</a>) on chromosome 19p13.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (<a href="#9" class="mim-tip-reference" title="Jen, J. C., Graves, T. D., Hess, E. J., Hanna, M. G., Griggs, R. C., Baloh, R. W., CINCH Investigators. <strong>Primary episodic ataxias: diagnosis, pathogenesis and treatment.</strong> Brain 130: 2484-2493, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17575281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17575281</a>] [<a href="https://doi.org/10.1093/brain/awm126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17575281">Jen et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17575281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (<a href="/entry/160120">160120</a>).</p>
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<div>
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<br />
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#18" class="mim-tip-reference" title="Parker, H. L. <strong>Periodic ataxia. In: Hewlett, R. M.; Nevling, A. B.; Minor, J. R.: Collected Papers of the Mayo Clinic.</strong> Philadelphia: W. B. Saunders (pub.) 1946. Pp. 642-645."None>Parker (1946)</a> may have been the first to describe this disorder. <a href="#7" class="mim-tip-reference" title="Hill, W., Sherman, H. <strong>Acute intermittent familial cerebellar ataxia.</strong> Arch. Neurol. 18: 350-357, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5638538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5638538</a>] [<a href="https://doi.org/10.1001/archneur.1968.00470340036002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5638538">Hill and Sherman (1968)</a> described episodic cerebellar ataxia occurring particularly in children in a large kindred with an autosomal dominant pattern of inheritance. The symptoms ameliorated in later life with no permanent or progressive cerebellar abnormalities. The cases presented by <a href="#29" class="mim-tip-reference" title="White, J. C. <strong>Familial periodic nystagmus, vertigo and ataxia.</strong> Arch. Neurol. 20: 276-280, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5766492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5766492</a>] [<a href="https://doi.org/10.1001/archneur.1969.00480090064010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5766492">White (1969)</a> showed gradual abatement of symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5638538+5766492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Donat, J. R., Auger, R. <strong>Familial periodic ataxia.</strong> Arch. Neurol. 36: 568-569, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/475621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">475621</a>] [<a href="https://doi.org/10.1001/archneur.1979.00500450062011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="475621">Donat and Auger (1979)</a> reported ataxia in a 16-year-old boy and his 41-year-old mother, both of whom had 'downbeating nystagmus' of the eyes when in the primary position of gaze. The attacks of dizziness, which began at the age of 9 in the boy, were relieved with acetazolamide. <a href="#12" class="mim-tip-reference" title="Koller, W., Bahamon-Dussan, J. <strong>Hereditary paroxysmal cerebellopathy: responsiveness to acetazolamide.</strong> Clin. Neuropharmacol. 10: 65-68, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3469025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3469025</a>] [<a href="https://doi.org/10.1097/00002826-198702000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3469025">Koller and Bahamon-Dussan (1987)</a> reported a family with affected individuals in 3 generations, including 1 instance of male-to-male transmission. Stress or emotion precipitated attacks. Examination between attacks showed nystagmus, but no other neurologic signs. After adolescence, there was no progression of symptoms. The authors found, as have others (e.g., <a href="#30" class="mim-tip-reference" title="Zasorin, N. L., Baloh, R. W., Myers, L. B. <strong>Acetazolamide-responsive episodic ataxia syndrome.</strong> Neurology 33: 1212-1214, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6684259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6684259</a>] [<a href="https://doi.org/10.1212/wnl.33.9.1212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6684259">Zasorin et al., 1983</a>), that acetazolamide therapy successfully abolished the attacks. This disorder may have first been recognized by <a href="#18" class="mim-tip-reference" title="Parker, H. L. <strong>Periodic ataxia. In: Hewlett, R. M.; Nevling, A. B.; Minor, J. R.: Collected Papers of the Mayo Clinic.</strong> Philadelphia: W. B. Saunders (pub.) 1946. Pp. 642-645."None>Parker (1946)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=475621+3469025+6684259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Vighetto, A., Froment, J. C., Trillet, M., Aimard, G. <strong>Magnetic resonance imaging in familial paroxysmal ataxia.</strong> Arch. Neurol. 45: 547-549, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3358708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3358708</a>] [<a href="https://doi.org/10.1001/archneur.1988.00520290083018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3358708">Vighetto et al. (1988)</a> indicated that 15 kindreds had been reported. They were the first to report selective atrophy of the cerebellar vermis in all 3 members of 2 affected families that were studied by magnetic resonance imaging. In the family reported by <a href="#3" class="mim-tip-reference" title="Boel, M., Casaer, P. <strong>Familial periodic ataxia responsive to flunarizine.</strong> Neuropediatrics 19: 218-220, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3205379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3205379</a>] [<a href="https://doi.org/10.1055/s-2008-1052450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3205379">Boel and Casaer (1988)</a>, all affected members had their first attacks before the age of 10 and the symptoms usually disappeared during the second decade of life. Ataxia was precipitated by stressful classroom situations or exciting football or tennis contests. Ataxia usually lasted 3 to 8 minutes with no loss of consciousness but was followed by a period of fatigue which often lasted for more than an hour. <a href="#1" class="mim-tip-reference" title="Bain, P. G., O'Brien, M. D., Keevil, S. F., Porter, D. A. <strong>Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis.</strong> Ann. Neurol. 31: 147-154, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1575453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1575453</a>] [<a href="https://doi.org/10.1002/ana.410310205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1575453">Bain et al. (1992)</a> reported that in 6 affected members of 2 unrelated families with familial periodic cerebellar ataxia, symptoms were relieved with oral acetazolamide. When untreated, all subjects showed abnormal intracellular pH levels in the cerebellum by (31)P nuclear magnetic resonance (NMR) spectroscopy. These levels returned to normal with treatment. In 1 family studied, cerebral pH values were normal before and after treatment. In 3 additional patients with similar attacks, but without a family history, normal pH values were found in both cerebellum and cerebrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3205379+1575453+3358708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the 2 families reported by <a href="#28" class="mim-tip-reference" title="von Brederlow, B., Hahn, A. F., Koopman, W. J., Ebers, G. C., Bulman, D. E. <strong>Mapping the gene for acetazolamide responsive hereditary paryoxysmal (sic) cerebellar ataxia to chromosome 19p.</strong> Hum. Molec. Genet. 4: 279-284, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7757080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7757080</a>] [<a href="https://doi.org/10.1093/hmg/4.2.279" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7757080">von Brederlow et al. (1995)</a>, physical and emotional stress was the most consistent precipitating factor, although attacks were also triggered occasionally by carbohydrate-rich meals. Attacks lasted between one-half hour and 6 hours. Typical attacks were observed in children as young as age 2 to 5 years, although onset was more common in the second decade. Frequency of the episodes ranged from 3 to 4 times per week to 1 to 2 times per year. Symptoms were fully controlled with acetazolamide. Attacks recurred promptly within 48 to 72 hours upon cessation of medication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7757080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Subramony, S. H., Schott, K., Raike, R. S., Callahan, J., Langford, L. R., Christova, P. S., Anderson, J. H., Gomez, C. M. <strong>Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.</strong> Ann. Neurol. 54: 725-731, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14681882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14681882</a>] [<a href="https://doi.org/10.1002/ana.10756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14681882">Subramony et al. (2003)</a> reported a family with autosomal dominant episodic ataxia type 2 confirmed by mutation in the CACNA1A gene. Nine of 11 affected patients reported that fever or heat triggered ataxic episodes, headaches, weakness, vertigo, or nausea and vomiting. Six patients showed interictal cerebellar deficits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14681882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Spacey, S. D., Materek, L. A., Szczygielski, B. I., Bird, T. D. <strong>Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.</strong> Arch. Neurol. 62: 314-316, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15710862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15710862</a>] [<a href="https://doi.org/10.1001/archneur.62.2.314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15710862">Spacey et al. (2005)</a> reported 2 unrelated patients with EA2 confirmed by genetic analysis who developed dystonia late in the disease, at ages 59 and 47 years, respectively. The authors suggested that dystonia may be a manifestation of a degenerative cerebellar process. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15710862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Imbrici, P., Eunson, L. H., Graves, T. D., Bhatia, K. P., Wadia, N. H., Kullmann, D. M., Hanna, M. G. <strong>Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.</strong> Neurology 65: 944-946, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16186543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16186543</a>] [<a href="https://doi.org/10.1212/01.wnl.0000176069.64200.28" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16186543">Imbrici et al. (2005)</a> reported an Indian man with late-onset EA2 beginning at age 61, followed by a progressive cerebellar syndrome at age 62. The patient's medical history included juvenile-onset complex partial seizures and depression but no headaches. Molecular analysis confirmed a mutation in the CACNA1A gene in the patient and in his asymptomatic son. <a href="#8" class="mim-tip-reference" title="Imbrici, P., Eunson, L. H., Graves, T. D., Bhatia, K. P., Wadia, N. H., Kullmann, D. M., Hanna, M. G. <strong>Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.</strong> Neurology 65: 944-946, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16186543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16186543</a>] [<a href="https://doi.org/10.1212/01.wnl.0000176069.64200.28" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16186543">Imbrici et al. (2005)</a> emphasized the unusual clinical presentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16186543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#19" class="mim-tip-reference" title="Reinson, K., Oiglane-Shlik, E., Talvik, I., Vaher, U., Ounapuu, A., Ennok, M., Teek, R., Pajusalu, S., Murumets, U., Tomberg, T., Puusepp, S., Piirsoo, A., Reimand, T., Ounap, K. <strong>Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.</strong> Am. J. Med. Genet. 170A: 2173-2176, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27250579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27250579</a>] [<a href="https://doi.org/10.1002/ajmg.a.37678" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27250579">Reinson et al. (2016)</a> reported a family from Estonia with a highly unusual phenotype best characterized in some of the patients as a form of EA2. The proband was a 5-year-old boy who had severe epileptic encephalopathy with onset of seizures at 4 months of age. He had severe hypotonia with almost no spontaneous movements, no eye contact, and EEG abnormalities. Brain imaging showed several abnormalities, including a small corpus callosum, dilated ventricles, and diffuse hypomyelination; he also had optic atrophy. He was blind and bedridden with developmental delay, marked muscular atrophy, and rigidity. An older sister had died at age 5 with a similar phenotype. Both parents had mild intellectual disability, and the mother also had probable alcohol-induced cerebellar ataxia with cerebellar atrophy on brain imaging. She had intention tremor of the hands, poor balance, and wide-based gate with horizontal nystagmus. The father had rare headaches without hemiplegia. Two other sisters of the proband had mild intellectual disability: one also had migraine, exercise-induced vertigo attacks, and psychiatric problems, whereas the other also had generalized epileptic activity on EEG without overt seizures. Exome sequencing identified compound heterozygosity for a missense (W1439R) and a frameshift (Ala158ThrfsTer6) mutation in the CACNA1A gene in the severely affected sibs, whereas each mildly affected parent and the 2 mildly affected sisters were heterozygous for 1 of the mutations. Functional studies of the variants and studies of patient cells were not performed, but neither mutation was found in the ExAC database or in an in-house database of 339 individuals. <a href="#19" class="mim-tip-reference" title="Reinson, K., Oiglane-Shlik, E., Talvik, I., Vaher, U., Ounapuu, A., Ennok, M., Teek, R., Pajusalu, S., Murumets, U., Tomberg, T., Puusepp, S., Piirsoo, A., Reimand, T., Ounap, K. <strong>Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.</strong> Am. J. Med. Genet. 170A: 2173-2176, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27250579/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27250579</a>] [<a href="https://doi.org/10.1002/ajmg.a.37678" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27250579">Reinson et al. (2016)</a> noted the unusual inheritance pattern and variable phenotype in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27250579" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Most patients with EA2 show a favorable response to acetazolamide. <a href="#24" class="mim-tip-reference" title="Strupp, M., Kalla, R., Dichgans, M., Freilinger, T., Glasauer, S., Brandt, T. <strong>Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine.</strong> Neurology 62: 1623-1625, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15136697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15136697</a>] [<a href="https://doi.org/10.1212/01.wnl.0000125691.74109.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15136697">Strupp et al. (2004)</a> reported 3 patients with EA2, 2 of whom were confirmed by genetic analysis, who showed a favorable response to the potassium channel blocker 4-aminopyridine (4-AP). Attacks recurred after treatment was stopped, and subsequent treatment alleviated the symptoms. <a href="#24" class="mim-tip-reference" title="Strupp, M., Kalla, R., Dichgans, M., Freilinger, T., Glasauer, S., Brandt, T. <strong>Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine.</strong> Neurology 62: 1623-1625, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15136697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15136697</a>] [<a href="https://doi.org/10.1212/01.wnl.0000125691.74109.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15136697">Strupp et al. (2004)</a> postulated that 4-AP increased the release of the inhibitory transmitter gamma-aminobutyrate (GABA) in Purkinje cells by prolonging the duration of action potentials through the blockade of several potassium channels, including the delayed rectifier channel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15136697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Strupp, M., Kalla, R., Claassen, J., Adrion, C., Mansmann, U., Klopstock, T., Freilinger, T., Neugebauer, H., Spiegel, R., Dichgans, M., Lehmann-Horn, F., Jurkat-Rott, K., Brandt, T., Jen, J. C., Jahn, K. <strong>A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.</strong> Neurology 77: 269-275, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21734179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21734179</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21734179[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318225ab07" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21734179">Strupp et al. (2011)</a> evaluated the therapeutic efficacy of 4-AP in a randomized double-blind placebo-controlled crossover study of 10 individuals with episodic ataxia with nystagmus, 7 of whom had a proven pathogenic mutation in the CACNA1A gene. After 7 months of treatment, those who took 4-AP had a significant reduction in the frequency of episodes and a marginally significant decrease in the duration of attacks compared to those who took a placebo. Recipients of the drug also had decreased disease burden, as measured by a questionnaire. Minor adverse events were uncommon, and 7 of 10 continued to take 4-AP 2 years after the study with good response. All patients had a family history of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21734179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a large family with this form of episodic ataxia, <a href="#16" class="mim-tip-reference" title="Litt, M., Kramer, P., Browne, D., Gancher, S., Brunt, E. R .P., Root, D., Phromchotikul, T., Dubay, C. J., Nutt, J. <strong>A gene for episodic ataxia/myokymia maps to chromosome 12p13.</strong> Am. J. Hum. Genet. 55: 702-709, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7942848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7942848</a>]" pmid="7942848">Litt et al. (1994)</a> excluded linkage to 12p where the locus for the episodic ataxia/myokymia syndrome (EA1; <a href="/entry/160120">160120</a>) had been mapped. In 2 large kindreds with paroxysmal ataxia, <a href="#28" class="mim-tip-reference" title="von Brederlow, B., Hahn, A. F., Koopman, W. J., Ebers, G. C., Bulman, D. E. <strong>Mapping the gene for acetazolamide responsive hereditary paryoxysmal (sic) cerebellar ataxia to chromosome 19p.</strong> Hum. Molec. Genet. 4: 279-284, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7757080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7757080</a>] [<a href="https://doi.org/10.1093/hmg/4.2.279" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7757080">von Brederlow et al. (1995)</a> found linkage to 19p. The microsatellite marker UT705 was found to be linked to the ataxia locus with a 2-point analysis yielding a maximum lod score of 8.20 at theta = 0.00 in a 5-generation pedigree. Linkage to this region was confirmed in the second kindred. They referred to the disorder as acetazolamide-responsive hereditary paroxysmal cerebellar ataxia (APCA). <a href="#26" class="mim-tip-reference" title="Vahedi, K., Joutel, A., Van Bogaert, P., Ducros, A., Maciazeck, J., Bach, J. F., Bousser, M. G., Tournier-Lasserve, E. <strong>A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p.</strong> Ann. Neurol. 37: 289-293, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7695228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7695228</a>] [<a href="https://doi.org/10.1002/ana.410370304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7695228">Vahedi et al. (1995)</a> reported linkage in a large family with this type of episodic ataxia to a 30-cM region on 19p flanked by D19S216 and D19S215. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7757080+7942848+7695228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Kramer, P., Litt, M., Browne, D., Promchotikul, T., Brunt, E. R. P., Dubay, C., Gancher, S., Nutt, J. <strong>Autosomal dominant episodic ataxia represents at least two genetic disorders. (Abstract)</strong> Ann. Neurol. 36: 279, 1994."None>Kramer et al. (1994)</a> suggested that there are 2 autosomal dominant forms of episodic ataxia. In EA1, attacks last minutes and interictal myokymia may be present. This form maps to chromosome 12 and by the candidate gene approach was shown to be due to mutations in a specific potassium voltage-gated channel gene (KCNA1; <a href="/entry/176260">176260</a>). The second form, EA2, is often associated with nystagmus or truncal instability and shows beneficial response to acetazolamide. <a href="#13" class="mim-tip-reference" title="Kramer, P. L., Smith, E., Carrero-Valenzuela, R., Root, D., Browne, D., Lovrien, E., Gancher, S., Nutt, J., Litt, M. <strong>A gene for nystagmus-associated episodic ataxia maps to chromosome 19p. (Abstract)</strong> Am. J. Hum. Genet. 55 (Suppl.): A191, 1994."None>Kramer et al. (1994)</a> and <a href="#14" class="mim-tip-reference" title="Kramer, P. L., Yue, Q., Gancher, S. T., Nutt, J. G., Baloh, R., Smith, E., Browne, D., Bussey, K., Lovrien, E., Nelson, S., Litt, M. <strong>A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p. (Letter)</strong> Am. J. Hum. Genet. 57: 182-185, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7611286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7611286</a>]" pmid="7611286">Kramer et al. (1995)</a> demonstrated that the nystagmus-associated form was mapped to 19p. They studied 3 families in which detailed clinical descriptions had been given by <a href="#30" class="mim-tip-reference" title="Zasorin, N. L., Baloh, R. W., Myers, L. B. <strong>Acetazolamide-responsive episodic ataxia syndrome.</strong> Neurology 33: 1212-1214, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6684259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6684259</a>] [<a href="https://doi.org/10.1212/wnl.33.9.1212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6684259">Zasorin et al. (1983)</a>, <a href="#6" class="mim-tip-reference" title="Gancher, S. T., Nutt, J. G. <strong>Autosomal dominant episodic ataxia: a heterogeneous syndrome.</strong> Mov. Disord. 1: 239-253, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3504247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3504247</a>] [<a href="https://doi.org/10.1002/mds.870010404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3504247">Gancher and Nutt (1986)</a>, and <a href="#2" class="mim-tip-reference" title="Baloh, R. W., Winder, A. <strong>Acetazolamide-responsive vestibulocerebellar syndrome: clinical and oculographic features.</strong> Neurology 41: 429-433, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2006014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2006014</a>] [<a href="https://doi.org/10.1212/wnl.41.3.429" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2006014">Baloh and Winder (1991)</a>. The strongest evidence for linkage occurred at D19S221; total lod score = 5.07 at theta = 0.01 with no obligate crossovers in any of the 3 kindreds. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7611286+3504247+2006014+6684259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of EA2 in 3 families reported by <a href="#20" class="mim-tip-reference" title="Riant, F., Lescoat, C., Vahedi, K., Kaphan, E., Toutain, A., Soisson, T., Wiener-Vacher, S. R., Tournier-Lasserve, E. <strong>Identification of CACNA1A large deletions in four patients with episodic ataxia.</strong> Neurogenetics 11: 101-106, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19633872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19633872</a>] [<a href="https://doi.org/10.1007/s10048-009-0208-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19633872">Riant et al. (2010)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19633872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a family initially classified as autosomal dominant cerebellar ataxia of unknown type, <a href="#11" class="mim-tip-reference" title="Jodice, C., Mantuano, E., Veneziano, L., Trettel, F., Sabbadini, G., Calandriello, L., Francia, A., Spadaro, M., Pierelli, F., Salvi, F., Ophoff, R. A., Frants, R. R., Frontali, M. <strong>Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.</strong> Hum. Molec. Genet. 6: 1973-1978, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302278</a>] [<a href="https://doi.org/10.1093/hmg/6.11.1973" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302278">Jodice et al. (1997)</a> found that an intergenerational allele size change showed that a (CAG)20 allele (<a href="/entry/601011#0008">601011.0008</a>) was associated with an EA2 phenotype and a (CAG)25 allele with progressive cerebellar ataxia. These results suggested that EA2 and SCA6 (<a href="/entry/183086">183086</a>) are the same disorder with a high phenotypic variability, at least partly related to the number of repeats, and suggested that the small expansions in the CACNA1A gene may not be as stable as previously reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9302278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Hemiplegic migraine type 1 (<a href="/entry/141500">141500</a>) has also been mapped to 19p13. <a href="#17" class="mim-tip-reference" title="Ophoff, R. A., Terwindt, G. M., Vergouwe, M. N., van Eijk, R., Oefner, P. J., Hoffman, S. M. G., Lamerdin, J. E., Mohrenweiser, H. W., Bulman, D. E., Ferrari, M., Haan, J., Lindhout, D., van Ommen, G.-J. B., Hofker, M. H., Ferrari, M. D., Frants, R. R. <strong>Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca(2+) channel gene CACNL1A4.</strong> Cell 87: 543-552, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8898206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8898206</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81373-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8898206">Ophoff et al. (1996)</a> found mutations in the calcium ion channel gene CACNL1A4 in both familial hemiplegic migraine (e.g., <a href="/entry/601011#0001">601011.0001</a>) and episodic ataxia type 2 (see <a href="/entry/601011#0005">601011.0005</a> and <a href="/entry/601011#0006">601011.0006</a>). The CACNL1A4 gene had previously been mapped to 19p13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8898206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Riant, F., Mourtada, R., Saugier-Veber, P., Tournier-Lasserve, E. <strong>Large CACNA1A deletion in a family with episodic ataxia type 2.</strong> Arch. Neurol. 65: 817-820, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18541804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18541804</a>] [<a href="https://doi.org/10.1001/archneur.65.6.817" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18541804">Riant et al. (2008)</a> identified a heterozygous 39.5-kb deletion in the CACNA1A gene (<a href="/entry/601011#0026">601011.0026</a>) in 3 affected members of a family with autosomal dominant EA2 in whom initial screening did not identify a point mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18541804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a comprehensive review of episodic ataxia type 2 and its causative mutations, see <a href="#4" class="mim-tip-reference" title="Brandt, T., Strupp, M. <strong>Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).</strong> Audiol. Neurootol. 2: 373-383, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9390841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9390841</a>] [<a href="https://doi.org/10.1159/000259262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9390841">Brandt and Strupp (1997)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9390841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Jen, J. C., Graves, T. D., Hess, E. J., Hanna, M. G., Griggs, R. C., Baloh, R. W., CINCH Investigators. <strong>Primary episodic ataxias: diagnosis, pathogenesis and treatment.</strong> Brain 130: 2484-2493, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17575281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17575281</a>] [<a href="https://doi.org/10.1093/brain/awm126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17575281">Jen et al. (2007)</a> provided a detailed review of the pathophysiology and molecular genetics of known episodic ataxia syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17575281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Riant, F., Lescoat, C., Vahedi, K., Kaphan, E., Toutain, A., Soisson, T., Wiener-Vacher, S. R., Tournier-Lasserve, E. <strong>Identification of CACNA1A large deletions in four patients with episodic ataxia.</strong> Neurogenetics 11: 101-106, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19633872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19633872</a>] [<a href="https://doi.org/10.1007/s10048-009-0208-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19633872">Riant et al. (2010)</a> identified 4 different exonic deletions in the CACNA1A gene in 4 (14%) of 27 patients with episodic ataxia, in whom sequencing analysis was negative for CACNA1A point mutations. The EA2 phenotype in patients with deletions was similar to that of patients with point mutations. The findings indicated that screening for deletions in the CACNA1A gene should also be done for a complete genetic workup. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19633872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Jen, J., Kim, G. W., Baloh, R. W. <strong>Clinical spectrum of episodic ataxia type 2.</strong> Neurology 62: 17-22, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14718690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14718690</a>] [<a href="https://doi.org/10.1212/01.wnl.0000101675.61074.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14718690">Jen et al. (2004)</a> identified a total of 13 mutations in the CACNA1A gene in 9 of 11 families with EA2 showing linkage to chromosome 19p, and in 4 of 9 sporadic cases of EA2. Mutations were identified in a total of 46 affected and 8 unaffected family members, demonstrating incomplete penetrance. Almost all of the mutation carriers reported episodic ataxia, except 2 related patients who reported only progressive ataxia. Onset was before age 20 years in all cases except 1 with reported ataxia at age 30. Migraine headaches occurred in 24 of 40 mutation carriers, and 15 of 21 treated patients reported good response to acetazolamide. Four patients had episodes of hemiplegia. The mutations were scattered throughout the gene, and there were no obvious genotype/phenotype correlations. <a href="#10" class="mim-tip-reference" title="Jen, J., Kim, G. W., Baloh, R. W. <strong>Clinical spectrum of episodic ataxia type 2.</strong> Neurology 62: 17-22, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14718690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14718690</a>] [<a href="https://doi.org/10.1212/01.wnl.0000101675.61074.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14718690">Jen et al. (2004)</a> noted the phenotypic overlap between disorders caused by mutations in the CACNA1A gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14718690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis.</strong>
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Ann. Neurol. 31: 147-154, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1575453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1575453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1575453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410310205" target="_blank">Full Text</a>]
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Neurology 41: 429-433, 1991.
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<a id="21" class="mim-anchor"></a>
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<a id="Riant2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Riant, F., Mourtada, R., Saugier-Veber, P., Tournier-Lasserve, E.
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|
<strong>Large CACNA1A deletion in a family with episodic ataxia type 2.</strong>
|
|
Arch. Neurol. 65: 817-820, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18541804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18541804</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18541804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.65.6.817" target="_blank">Full Text</a>]
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</p>
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<a id="22" class="mim-anchor"></a>
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<a id="Spacey2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Spacey, S. D., Materek, L. A., Szczygielski, B. I., Bird, T. D.
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<strong>Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.</strong>
|
|
Arch. Neurol. 62: 314-316, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15710862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15710862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15710862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.62.2.314" target="_blank">Full Text</a>]
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</p>
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<a id="23" class="mim-anchor"></a>
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<a id="Strupp2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Strupp, M., Kalla, R., Claassen, J., Adrion, C., Mansmann, U., Klopstock, T., Freilinger, T., Neugebauer, H., Spiegel, R., Dichgans, M., Lehmann-Horn, F., Jurkat-Rott, K., Brandt, T., Jen, J. C., Jahn, K.
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<strong>A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.</strong>
|
|
Neurology 77: 269-275, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21734179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21734179</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21734179[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21734179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0b013e318225ab07" target="_blank">Full Text</a>]
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</p>
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<a id="24" class="mim-anchor"></a>
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<a id="Strupp2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Strupp, M., Kalla, R., Dichgans, M., Freilinger, T., Glasauer, S., Brandt, T.
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<strong>Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine.</strong>
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Neurology 62: 1623-1625, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15136697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15136697</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15136697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000125691.74109.53" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="Subramony2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Subramony, S. H., Schott, K., Raike, R. S., Callahan, J., Langford, L. R., Christova, P. S., Anderson, J. H., Gomez, C. M.
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<strong>Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.</strong>
|
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Ann. Neurol. 54: 725-731, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14681882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14681882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14681882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.10756" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Vahedi1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vahedi, K., Joutel, A., Van Bogaert, P., Ducros, A., Maciazeck, J., Bach, J. F., Bousser, M. G., Tournier-Lasserve, E.
|
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<strong>A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p.</strong>
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Ann. Neurol. 37: 289-293, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7695228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7695228</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7695228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410370304" target="_blank">Full Text</a>]
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<li>
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<a id="27" class="mim-anchor"></a>
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<a id="Vighetto1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vighetto, A., Froment, J. C., Trillet, M., Aimard, G.
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<strong>Magnetic resonance imaging in familial paroxysmal ataxia.</strong>
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Arch. Neurol. 45: 547-549, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3358708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3358708</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3358708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.1988.00520290083018" target="_blank">Full Text</a>]
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<a id="28" class="mim-anchor"></a>
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<a id="von Brederlow1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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von Brederlow, B., Hahn, A. F., Koopman, W. J., Ebers, G. C., Bulman, D. E.
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<strong>Mapping the gene for acetazolamide responsive hereditary paryoxysmal (sic) cerebellar ataxia to chromosome 19p.</strong>
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Hum. Molec. Genet. 4: 279-284, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7757080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7757080</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7757080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/4.2.279" target="_blank">Full Text</a>]
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<a id="29" class="mim-anchor"></a>
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<a id="White1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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White, J. C.
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<strong>Familial periodic nystagmus, vertigo and ataxia.</strong>
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Arch. Neurol. 20: 276-280, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5766492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5766492</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5766492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.1969.00480090064010" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Zasorin1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zasorin, N. L., Baloh, R. W., Myers, L. B.
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<strong>Acetazolamide-responsive episodic ataxia syndrome.</strong>
|
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Neurology 33: 1212-1214, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6684259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6684259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6684259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.33.9.1212" target="_blank">Full Text</a>]
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</ol>
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<div>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 09/12/2016
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/21/2011<br>Cassandra L. Kniffin - updated : 3/1/2010<br>Cassandra L. Kniffin - updated : 11/4/2009<br>Cassandra L. Kniffin - updated : 1/6/2009<br>Cassandra L. Kniffin - updated : 11/1/2005<br>Cassandra L. Kniffin - updated : 6/28/2005<br>Cassandra L. Kniffin - updated : 2/21/2005<br>Cassandra L. Kniffin - updated : 2/6/2004<br>Wilson H. Y. Lo - updated : 2/11/2000<br>Ada Hamosh - updated : 8/12/1998<br>Victor A. McKusick - updated : 11/13/1997
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</span>
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</div>
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</div>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/30/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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alopez : 04/26/2021<br>alopez : 10/31/2019<br>carol : 09/15/2016<br>ckniffin : 09/12/2016<br>carol : 04/29/2014<br>carol : 11/22/2011<br>ckniffin : 11/21/2011<br>wwang : 3/3/2010<br>ckniffin : 3/1/2010<br>wwang : 11/18/2009<br>ckniffin : 11/4/2009<br>wwang : 1/13/2009<br>ckniffin : 1/6/2009<br>carol : 12/22/2005<br>carol : 12/22/2005<br>wwang : 11/21/2005<br>wwang : 11/2/2005<br>ckniffin : 11/1/2005<br>ckniffin : 6/28/2005<br>wwang : 2/25/2005<br>ckniffin : 2/21/2005<br>tkritzer : 2/11/2004<br>ckniffin : 2/6/2004<br>alopez : 12/12/2001<br>alopez : 12/11/2001<br>alopez : 12/11/2001<br>terry : 11/21/2000<br>yemi : 2/11/2000<br>carol : 8/12/1998<br>terry : 11/14/1997<br>terry : 11/13/1997<br>joanna : 6/15/1997<br>terry : 11/18/1996<br>terry : 11/15/1996<br>mark : 2/7/1996<br>terry : 2/1/1996<br>terry : 7/28/1995<br>mark : 7/12/1995<br>carol : 11/16/1994<br>mimadm : 4/18/1994<br>carol : 5/12/1992<br>supermim : 3/16/1992
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</span>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 108500
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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EPISODIC ATAXIA, TYPE 2; EA2
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</span>
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<h4>
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<span class="mim-font">
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ATAXIA, EPISODIC, WITH NYSTAGMUS<br />
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EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED<br />
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CEREBELLOPATHY, HEREDITARY PAROXYSMAL<br />
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ATAXIA, FAMILIAL PAROXYSMAL<br />
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ACETAZOLAMIDE-RESPONSIVE HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA; APCA<br />
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CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE; CAPA
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 420932006;
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<strong>ORPHA:</strong> 97;
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<strong>DO:</strong> 0050990;
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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19p13.13
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</span>
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</td>
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<td>
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<span class="mim-font">
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Episodic ataxia, type 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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108500
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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CACNA1A
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</span>
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</td>
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<td>
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<span class="mim-font">
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601011
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that episodic ataxia type 2 (EA2) is caused by heterozygous mutation in the calcium ion channel gene CACNA1A (601011) on chromosome 19p13.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007). </p><p>For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Parker (1946) may have been the first to describe this disorder. Hill and Sherman (1968) described episodic cerebellar ataxia occurring particularly in children in a large kindred with an autosomal dominant pattern of inheritance. The symptoms ameliorated in later life with no permanent or progressive cerebellar abnormalities. The cases presented by White (1969) showed gradual abatement of symptoms. </p><p>Donat and Auger (1979) reported ataxia in a 16-year-old boy and his 41-year-old mother, both of whom had 'downbeating nystagmus' of the eyes when in the primary position of gaze. The attacks of dizziness, which began at the age of 9 in the boy, were relieved with acetazolamide. Koller and Bahamon-Dussan (1987) reported a family with affected individuals in 3 generations, including 1 instance of male-to-male transmission. Stress or emotion precipitated attacks. Examination between attacks showed nystagmus, but no other neurologic signs. After adolescence, there was no progression of symptoms. The authors found, as have others (e.g., Zasorin et al., 1983), that acetazolamide therapy successfully abolished the attacks. This disorder may have first been recognized by Parker (1946). </p><p>Vighetto et al. (1988) indicated that 15 kindreds had been reported. They were the first to report selective atrophy of the cerebellar vermis in all 3 members of 2 affected families that were studied by magnetic resonance imaging. In the family reported by Boel and Casaer (1988), all affected members had their first attacks before the age of 10 and the symptoms usually disappeared during the second decade of life. Ataxia was precipitated by stressful classroom situations or exciting football or tennis contests. Ataxia usually lasted 3 to 8 minutes with no loss of consciousness but was followed by a period of fatigue which often lasted for more than an hour. Bain et al. (1992) reported that in 6 affected members of 2 unrelated families with familial periodic cerebellar ataxia, symptoms were relieved with oral acetazolamide. When untreated, all subjects showed abnormal intracellular pH levels in the cerebellum by (31)P nuclear magnetic resonance (NMR) spectroscopy. These levels returned to normal with treatment. In 1 family studied, cerebral pH values were normal before and after treatment. In 3 additional patients with similar attacks, but without a family history, normal pH values were found in both cerebellum and cerebrum. </p><p>In the 2 families reported by von Brederlow et al. (1995), physical and emotional stress was the most consistent precipitating factor, although attacks were also triggered occasionally by carbohydrate-rich meals. Attacks lasted between one-half hour and 6 hours. Typical attacks were observed in children as young as age 2 to 5 years, although onset was more common in the second decade. Frequency of the episodes ranged from 3 to 4 times per week to 1 to 2 times per year. Symptoms were fully controlled with acetazolamide. Attacks recurred promptly within 48 to 72 hours upon cessation of medication. </p><p>Subramony et al. (2003) reported a family with autosomal dominant episodic ataxia type 2 confirmed by mutation in the CACNA1A gene. Nine of 11 affected patients reported that fever or heat triggered ataxic episodes, headaches, weakness, vertigo, or nausea and vomiting. Six patients showed interictal cerebellar deficits. </p><p>Spacey et al. (2005) reported 2 unrelated patients with EA2 confirmed by genetic analysis who developed dystonia late in the disease, at ages 59 and 47 years, respectively. The authors suggested that dystonia may be a manifestation of a degenerative cerebellar process. </p><p>Imbrici et al. (2005) reported an Indian man with late-onset EA2 beginning at age 61, followed by a progressive cerebellar syndrome at age 62. The patient's medical history included juvenile-onset complex partial seizures and depression but no headaches. Molecular analysis confirmed a mutation in the CACNA1A gene in the patient and in his asymptomatic son. Imbrici et al. (2005) emphasized the unusual clinical presentation. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Reinson et al. (2016) reported a family from Estonia with a highly unusual phenotype best characterized in some of the patients as a form of EA2. The proband was a 5-year-old boy who had severe epileptic encephalopathy with onset of seizures at 4 months of age. He had severe hypotonia with almost no spontaneous movements, no eye contact, and EEG abnormalities. Brain imaging showed several abnormalities, including a small corpus callosum, dilated ventricles, and diffuse hypomyelination; he also had optic atrophy. He was blind and bedridden with developmental delay, marked muscular atrophy, and rigidity. An older sister had died at age 5 with a similar phenotype. Both parents had mild intellectual disability, and the mother also had probable alcohol-induced cerebellar ataxia with cerebellar atrophy on brain imaging. She had intention tremor of the hands, poor balance, and wide-based gate with horizontal nystagmus. The father had rare headaches without hemiplegia. Two other sisters of the proband had mild intellectual disability: one also had migraine, exercise-induced vertigo attacks, and psychiatric problems, whereas the other also had generalized epileptic activity on EEG without overt seizures. Exome sequencing identified compound heterozygosity for a missense (W1439R) and a frameshift (Ala158ThrfsTer6) mutation in the CACNA1A gene in the severely affected sibs, whereas each mildly affected parent and the 2 mildly affected sisters were heterozygous for 1 of the mutations. Functional studies of the variants and studies of patient cells were not performed, but neither mutation was found in the ExAC database or in an in-house database of 339 individuals. Reinson et al. (2016) noted the unusual inheritance pattern and variable phenotype in this family. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Most patients with EA2 show a favorable response to acetazolamide. Strupp et al. (2004) reported 3 patients with EA2, 2 of whom were confirmed by genetic analysis, who showed a favorable response to the potassium channel blocker 4-aminopyridine (4-AP). Attacks recurred after treatment was stopped, and subsequent treatment alleviated the symptoms. Strupp et al. (2004) postulated that 4-AP increased the release of the inhibitory transmitter gamma-aminobutyrate (GABA) in Purkinje cells by prolonging the duration of action potentials through the blockade of several potassium channels, including the delayed rectifier channel. </p><p>Strupp et al. (2011) evaluated the therapeutic efficacy of 4-AP in a randomized double-blind placebo-controlled crossover study of 10 individuals with episodic ataxia with nystagmus, 7 of whom had a proven pathogenic mutation in the CACNA1A gene. After 7 months of treatment, those who took 4-AP had a significant reduction in the frequency of episodes and a marginally significant decrease in the duration of attacks compared to those who took a placebo. Recipients of the drug also had decreased disease burden, as measured by a questionnaire. Minor adverse events were uncommon, and 7 of 10 continued to take 4-AP 2 years after the study with good response. All patients had a family history of the disorder. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
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</span>
|
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</h4>
|
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</div>
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|
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|
|
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|
|
<span class="mim-text-font">
|
|
<p>In a large family with this form of episodic ataxia, Litt et al. (1994) excluded linkage to 12p where the locus for the episodic ataxia/myokymia syndrome (EA1; 160120) had been mapped. In 2 large kindreds with paroxysmal ataxia, von Brederlow et al. (1995) found linkage to 19p. The microsatellite marker UT705 was found to be linked to the ataxia locus with a 2-point analysis yielding a maximum lod score of 8.20 at theta = 0.00 in a 5-generation pedigree. Linkage to this region was confirmed in the second kindred. They referred to the disorder as acetazolamide-responsive hereditary paroxysmal cerebellar ataxia (APCA). Vahedi et al. (1995) reported linkage in a large family with this type of episodic ataxia to a 30-cM region on 19p flanked by D19S216 and D19S215. </p><p>Kramer et al. (1994) suggested that there are 2 autosomal dominant forms of episodic ataxia. In EA1, attacks last minutes and interictal myokymia may be present. This form maps to chromosome 12 and by the candidate gene approach was shown to be due to mutations in a specific potassium voltage-gated channel gene (KCNA1; 176260). The second form, EA2, is often associated with nystagmus or truncal instability and shows beneficial response to acetazolamide. Kramer et al. (1994) and Kramer et al. (1995) demonstrated that the nystagmus-associated form was mapped to 19p. They studied 3 families in which detailed clinical descriptions had been given by Zasorin et al. (1983), Gancher and Nutt (1986), and Baloh and Winder (1991). The strongest evidence for linkage occurred at D19S221; total lod score = 5.07 at theta = 0.01 with no obligate crossovers in any of the 3 kindreds. </p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The transmission pattern of EA2 in 3 families reported by Riant et al. (2010) was consistent with autosomal dominant inheritance. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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|
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|
|
<span class="mim-text-font">
|
|
<p>In a family initially classified as autosomal dominant cerebellar ataxia of unknown type, Jodice et al. (1997) found that an intergenerational allele size change showed that a (CAG)20 allele (601011.0008) was associated with an EA2 phenotype and a (CAG)25 allele with progressive cerebellar ataxia. These results suggested that EA2 and SCA6 (183086) are the same disorder with a high phenotypic variability, at least partly related to the number of repeats, and suggested that the small expansions in the CACNA1A gene may not be as stable as previously reported. </p><p>Hemiplegic migraine type 1 (141500) has also been mapped to 19p13. Ophoff et al. (1996) found mutations in the calcium ion channel gene CACNL1A4 in both familial hemiplegic migraine (e.g., 601011.0001) and episodic ataxia type 2 (see 601011.0005 and 601011.0006). The CACNL1A4 gene had previously been mapped to 19p13. </p><p>Riant et al. (2008) identified a heterozygous 39.5-kb deletion in the CACNA1A gene (601011.0026) in 3 affected members of a family with autosomal dominant EA2 in whom initial screening did not identify a point mutation. </p><p>For a comprehensive review of episodic ataxia type 2 and its causative mutations, see Brandt and Strupp (1997). </p><p>Jen et al. (2007) provided a detailed review of the pathophysiology and molecular genetics of known episodic ataxia syndromes. </p><p>Riant et al. (2010) identified 4 different exonic deletions in the CACNA1A gene in 4 (14%) of 27 patients with episodic ataxia, in whom sequencing analysis was negative for CACNA1A point mutations. The EA2 phenotype in patients with deletions was similar to that of patients with point mutations. The findings indicated that screening for deletions in the CACNA1A gene should also be done for a complete genetic workup. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Jen et al. (2004) identified a total of 13 mutations in the CACNA1A gene in 9 of 11 families with EA2 showing linkage to chromosome 19p, and in 4 of 9 sporadic cases of EA2. Mutations were identified in a total of 46 affected and 8 unaffected family members, demonstrating incomplete penetrance. Almost all of the mutation carriers reported episodic ataxia, except 2 related patients who reported only progressive ataxia. Onset was before age 20 years in all cases except 1 with reported ataxia at age 30. Migraine headaches occurred in 24 of 40 mutation carriers, and 15 of 21 treated patients reported good response to acetazolamide. Four patients had episodes of hemiplegia. The mutations were scattered throughout the gene, and there were no obvious genotype/phenotype correlations. Jen et al. (2004) noted the phenotypic overlap between disorders caused by mutations in the CACNA1A gene. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Bain, P. G., O'Brien, M. D., Keevil, S. F., Porter, D. A.
|
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<strong>Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis.</strong>
|
|
Ann. Neurol. 31: 147-154, 1992.
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[PubMed: 1575453]
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[Full Text: https://doi.org/10.1002/ana.410310205]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Baloh, R. W., Winder, A.
|
|
<strong>Acetazolamide-responsive vestibulocerebellar syndrome: clinical and oculographic features.</strong>
|
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Neurology 41: 429-433, 1991.
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[PubMed: 2006014]
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[Full Text: https://doi.org/10.1212/wnl.41.3.429]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Boel, M., Casaer, P.
|
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<strong>Familial periodic ataxia responsive to flunarizine.</strong>
|
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Neuropediatrics 19: 218-220, 1988.
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[PubMed: 3205379]
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[Full Text: https://doi.org/10.1055/s-2008-1052450]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Brandt, T., Strupp, M.
|
|
<strong>Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).</strong>
|
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Audiol. Neurootol. 2: 373-383, 1997.
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[PubMed: 9390841]
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[Full Text: https://doi.org/10.1159/000259262]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Donat, J. R., Auger, R.
|
|
<strong>Familial periodic ataxia.</strong>
|
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Arch. Neurol. 36: 568-569, 1979.
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[PubMed: 475621]
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[Full Text: https://doi.org/10.1001/archneur.1979.00500450062011]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gancher, S. T., Nutt, J. G.
|
|
<strong>Autosomal dominant episodic ataxia: a heterogeneous syndrome.</strong>
|
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Mov. Disord. 1: 239-253, 1986.
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[PubMed: 3504247]
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[Full Text: https://doi.org/10.1002/mds.870010404]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hill, W., Sherman, H.
|
|
<strong>Acute intermittent familial cerebellar ataxia.</strong>
|
|
Arch. Neurol. 18: 350-357, 1968.
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[PubMed: 5638538]
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[Full Text: https://doi.org/10.1001/archneur.1968.00470340036002]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Imbrici, P., Eunson, L. H., Graves, T. D., Bhatia, K. P., Wadia, N. H., Kullmann, D. M., Hanna, M. G.
|
|
<strong>Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.</strong>
|
|
Neurology 65: 944-946, 2005.
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[PubMed: 16186543]
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[Full Text: https://doi.org/10.1212/01.wnl.0000176069.64200.28]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Jen, J. C., Graves, T. D., Hess, E. J., Hanna, M. G., Griggs, R. C., Baloh, R. W., CINCH Investigators.
|
|
<strong>Primary episodic ataxias: diagnosis, pathogenesis and treatment.</strong>
|
|
Brain 130: 2484-2493, 2007.
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[PubMed: 17575281]
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[Full Text: https://doi.org/10.1093/brain/awm126]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Jen, J., Kim, G. W., Baloh, R. W.
|
|
<strong>Clinical spectrum of episodic ataxia type 2.</strong>
|
|
Neurology 62: 17-22, 2004.
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[PubMed: 14718690]
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[Full Text: https://doi.org/10.1212/01.wnl.0000101675.61074.50]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Jodice, C., Mantuano, E., Veneziano, L., Trettel, F., Sabbadini, G., Calandriello, L., Francia, A., Spadaro, M., Pierelli, F., Salvi, F., Ophoff, R. A., Frants, R. R., Frontali, M.
|
|
<strong>Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.</strong>
|
|
Hum. Molec. Genet. 6: 1973-1978, 1997.
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[PubMed: 9302278]
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[Full Text: https://doi.org/10.1093/hmg/6.11.1973]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Koller, W., Bahamon-Dussan, J.
|
|
<strong>Hereditary paroxysmal cerebellopathy: responsiveness to acetazolamide.</strong>
|
|
Clin. Neuropharmacol. 10: 65-68, 1987.
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[PubMed: 3469025]
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[Full Text: https://doi.org/10.1097/00002826-198702000-00006]
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</p>
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</li>
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